Mitochondrial ataxia - Unravelling the puzzle
Primary mitochondrial diseases (PMDs) can be caused by a defect in any of the mitochondrial metabolic pathways, due to mitochondrial or nuclear DNA mutations, or occurring de novo. Ataxia is one of the most common presentations in mitochondrial disorders and may present as pure cerebellar, sensory o...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2024-05-01
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| Series: | Annals of Movement Disorders |
| Subjects: | |
| Online Access: | https://doi.org/10.4103/aomd.aomd_63_24 |
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| _version_ | 1849706141406199808 |
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| author | Neha Pandita Jacky Ganguly Hrishikesh Kumar |
| author_facet | Neha Pandita Jacky Ganguly Hrishikesh Kumar |
| author_sort | Neha Pandita |
| collection | DOAJ |
| description | Primary mitochondrial diseases (PMDs) can be caused by a defect in any of the mitochondrial metabolic pathways, due to mitochondrial or nuclear DNA mutations, or occurring de novo. Ataxia is one of the most common presentations in mitochondrial disorders and may present as pure cerebellar, sensory or mixed ataxia. Understanding the basic mitochondrial physiological mechanisms, the classification of mitochondrial ataxias, phenotypic heterogeneity, and respective diagnostic evaluation methods is paramount to recognize this disorder. We conducted a comprehensive literature search using the PubMed database before July 1, 2024, to synthesize this narrative review, focusing on various aspects of primary mitochondrial disorders, particularly those associated with ataxia. |
| format | Article |
| id | doaj-art-21878672cb634e8d8618ce8242e95eef |
| institution | DOAJ |
| issn | 2590-3446 2590-3454 |
| language | English |
| publishDate | 2024-05-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Annals of Movement Disorders |
| spelling | doaj-art-21878672cb634e8d8618ce8242e95eef2025-08-20T03:16:17ZengWolters Kluwer Medknow PublicationsAnnals of Movement Disorders2590-34462590-34542024-05-0172788710.4103/aomd.aomd_63_24Mitochondrial ataxia - Unravelling the puzzleNeha PanditaJacky GangulyHrishikesh KumarPrimary mitochondrial diseases (PMDs) can be caused by a defect in any of the mitochondrial metabolic pathways, due to mitochondrial or nuclear DNA mutations, or occurring de novo. Ataxia is one of the most common presentations in mitochondrial disorders and may present as pure cerebellar, sensory or mixed ataxia. Understanding the basic mitochondrial physiological mechanisms, the classification of mitochondrial ataxias, phenotypic heterogeneity, and respective diagnostic evaluation methods is paramount to recognize this disorder. We conducted a comprehensive literature search using the PubMed database before July 1, 2024, to synthesize this narrative review, focusing on various aspects of primary mitochondrial disorders, particularly those associated with ataxia.https://doi.org/10.4103/aomd.aomd_63_24ataxiamtdnandnaoxphos |
| spellingShingle | Neha Pandita Jacky Ganguly Hrishikesh Kumar Mitochondrial ataxia - Unravelling the puzzle Annals of Movement Disorders ataxia mtdna ndna oxphos |
| title | Mitochondrial ataxia - Unravelling the puzzle |
| title_full | Mitochondrial ataxia - Unravelling the puzzle |
| title_fullStr | Mitochondrial ataxia - Unravelling the puzzle |
| title_full_unstemmed | Mitochondrial ataxia - Unravelling the puzzle |
| title_short | Mitochondrial ataxia - Unravelling the puzzle |
| title_sort | mitochondrial ataxia unravelling the puzzle |
| topic | ataxia mtdna ndna oxphos |
| url | https://doi.org/10.4103/aomd.aomd_63_24 |
| work_keys_str_mv | AT nehapandita mitochondrialataxiaunravellingthepuzzle AT jackyganguly mitochondrialataxiaunravellingthepuzzle AT hrishikeshkumar mitochondrialataxiaunravellingthepuzzle |